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Article

Novel frem1-related mouse phenotypes and evidence of genetic interactions with gata4 and slit3.

PloS one - 1 Jan 2013

Beck Tyler F, Shchelochkov Oleg A, Yu Zhiyin, Kim Bum Jun, Hernández-García Andrés, Zaveri Hitisha P, Bishop Colin, Overbeek Paul A, Stockton David W, Justice Monica J, Scott Daryl A

Abstract excerpt

The FRAS1-related extracellular matrix 1 (FREM1) gene encodes an extracellular matrix protein that plays a critical role in the development of multiple organ systems. In humans, recessive mutations in FREM1 cause eye defects, congenital diaphragmatic hernia, renal anomalies and anorectal malformations including anteriorly placed anus. A similar constellation of findings-microphthalmia, cryptophthalmos, congenital...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Extracellular Matrix Proteins

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Source

Open in PubMed Open full text

Identifiers

PMID: 23536828
DOI: 10.1371/journal.pone.0058830
PMCID: PMC3594180

Genes

FREM1
GATA4
SLIT3
FRAS1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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